The high prevalence of fragile X premutation carrier females: is this frequency unique to the French Canadian population?
作者信息
Sherman S L
出版信息
Am J Hum Genet. 1995 Nov;57(5):991-3.
Abstract
摘要
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Premature ovarian failure and fragile X female premutation carriers: no evidence for a skewed X-chromosome inactivation pattern.卵巢早衰与脆性X女性前突变携带者：不存在X染色体失活模式偏斜的证据。
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Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population.脆性X相关震颤/共济失调综合征在前突变携带者群体中的外显率。
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An assessment of screening strategies for fragile X syndrome in the UK.英国脆性X综合征筛查策略评估
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Fragile X Premutation Carrier Epidemiology and Symptomatology in Israel-Results from a Tertiary Child Developmental Center.以色列一家三级儿童发育中心的脆性X前突变携带者流行病学及症状学研究结果
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Molecular testing for Fragile X Syndrome: lessons learned from 119,232 tests performed in a clinical laboratory.脆性X综合征的分子检测：从临床实验室进行的119,232次检测中吸取的经验教训。
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引用本文的文献
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The fragile X syndrome.脆性X综合征
J Med Genet. 1998 Jul;35(7):579-89. doi: 10.1136/jmg.35.7.579.
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Fragile X premutations are not a major cause of early menopause.脆性X前突变并非早发性绝经的主要原因。
Am J Hum Genet. 1997 Dec;61(6):1362-9. doi: 10.1086/301647.
本文引用的文献
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Data on the CGG repeat at the fragile X site in the non-retarded Japanese population and family suggest the presence of a subgroup of normal alleles predisposing to mutate.关于日本非智障人群及家族中脆性X位点CGG重复序列的数据表明，存在一个易于发生突变的正常等位基因亚组。
Hum Genet. 1993 Nov;92(5):431-6. doi: 10.1007/BF00216445.
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Striking founder effect for the fragile X syndrome in Finland.芬兰脆性X综合征存在显著的奠基者效应。
Eur J Hum Genet. 1993;1(3):181-9. doi: 10.1159/000472412.
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Frequency and stability of the fragile X premutation.脆性X前突变的频率与稳定性
Hum Mol Genet. 1994 Mar;3(3):393-8. doi: 10.1093/hmg/3.3.393.
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Length of uninterrupted CGG repeats determines instability in the FMR1 gene.不间断的CGG重复序列的长度决定了FMR1基因的不稳定性。
Nat Genet. 1994 Sep;8(1):88-94. doi: 10.1038/ng0994-88.
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Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles.
Cell. 1994 Jun 17;77(6):853-61. doi: 10.1016/0092-8674(94)90134-1.
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Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population.对脆性X综合征家系及普通人群中FMR-1基因座处CGG序列的分析。
Am J Hum Genet. 1993 Dec;53(6):1217-28.
9
Precursor arrays for triplet repeat expansion at the fragile X locus.
Hum Mol Genet. 1994 Sep;3(9):1553-60. doi: 10.1093/hmg/3.9.1553.
10
Sequence analysis of the fragile X trinucleotide repeat: implications for the origin of the fragile X mutation.脆性X三核苷酸重复序列的序列分析：对脆性X突变起源的启示
Hum Mol Genet. 1994 Sep;3(9):1543-51. doi: 10.1093/hmg/3.9.1543.
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